Glycogen storage disease type V: a still under-recognized condition lacking definitive genotype-phenotype correlates
Pediatr Res
.
2024 Jul;96(2):279-280.
doi: 10.1038/s41390-024-03149-9.
Epub 2024 Mar 21.
Authors
Sabrina Ravaglia
1
,
Simone Gana
2
,
Enza Maria Valente
2
3
Affiliations
1
Neuromuscular Unit, IRCCS Fondazione Mondino, Pavia, Italy. sabrina.ravaglia@mondino.it.
2
Neurogenetics Research Center, IRCCS Fondazione Mondino, Pavia, Italy.
3
Department of Molecular Medicine, University of Pavia, Pavia, Italy.
PMID:
38514859
DOI:
10.1038/s41390-024-03149-9
No abstract available
Publication types
Letter
MeSH terms
Genetic Association Studies*
Genotype
Glycogen Storage Disease Type I
Glycogen Storage Disease* / genetics
Humans
Male
Mutation
Phenotype*
Supplementary concepts
Hepatorenal form of glycogen storage disease